Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.A188T
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PITX2

NM_000325.6:p.A188T

Associated Papers

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.

Medina-Trillo C et al.

Plos One, 2019

Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.

Seifi M et al.

Plos One, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."